USP4 c.258C>G ;(p.H86Q)

Variant ID: 3-49365221-G-C

NM_003363.3(USP4):c.258C>G;(p.H86Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: USP4: H86Q; rs776457742
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications
Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M
Publication Date: 2018-06-21

Variant appearance in text: USP4: His86Gln; rs776457742
PubMed Link: 29930244
Variant Present in the following documents:
  • 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page